Genetic Diversity and Linkage Disequilibrium in the Polynesian Population of Niue Island

ABSTRACT Isolated populations that recently have been derived from small homogeneous groups of founders should have low genetic diversity and high levels of linkage disequilibrium and should be ideal for mapping ancestral polymorphisms that influence complex genetic disease susceptibility. Populations that fulfill these criteria have been difficult to identify. We have been looking for Polynesian populations with these characteristics, because Polynesians have high rates of complex genetic diseases. In Niue Islanders all ancestral female (mitochondrial HSV1 sequence) and 90.4% of ancestral male (Y-chromosome haplogroup) lineages are of Southeast Asian origin. The frequency of European Y-chromosome haplogroups is 7.2%. The diversities of mitochondrial HSV1 sequences (h = 0.18 ±0.05) and Y-chromosome haplo-groups (h = 0.18 ±0.05) are lower than values published for any other population. Ten autosomal microsatellites spaced over 5.8 cM show low allele numbers in Niue Islanders relative to Europeans (55 vs. 8...